Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23985 | 72178;72179;72180 | chr2:178574179;178574178;178574177 | chr2:179438906;179438905;179438904 |
| N2AB | 22344 | 67255;67256;67257 | chr2:178574179;178574178;178574177 | chr2:179438906;179438905;179438904 |
| N2A | 21417 | 64474;64475;64476 | chr2:178574179;178574178;178574177 | chr2:179438906;179438905;179438904 |
| N2B | 14920 | 44983;44984;44985 | chr2:178574179;178574178;178574177 | chr2:179438906;179438905;179438904 |
| Novex-1 | 15045 | 45358;45359;45360 | chr2:178574179;178574178;178574177 | chr2:179438906;179438905;179438904 |
| Novex-2 | 15112 | 45559;45560;45561 | chr2:178574179;178574178;178574177 | chr2:179438906;179438905;179438904 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 1.0 | N | 0.833 | 0.551 | 0.663365763907 | gnomAD-4.0.0 | 2.73727E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59826E-06 | 0 | 0 |
| T/R | None | None | 1.0 | N | 0.835 | 0.525 | 0.78875543026 | gnomAD-4.0.0 | 6.84318E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99565E-07 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1125 | likely_benign | 0.1237 | benign | -0.838 | Destabilizing | 0.999 | D | 0.55 | neutral | N | 0.49763393 | None | None | N |
| T/C | 0.4828 | ambiguous | 0.4891 | ambiguous | -0.498 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/D | 0.5656 | likely_pathogenic | 0.5753 | pathogenic | 0.24 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| T/E | 0.366 | ambiguous | 0.3845 | ambiguous | 0.233 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| T/F | 0.3801 | ambiguous | 0.4437 | ambiguous | -1.047 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| T/G | 0.4639 | ambiguous | 0.4881 | ambiguous | -1.068 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/H | 0.3716 | ambiguous | 0.3959 | ambiguous | -1.317 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| T/I | 0.165 | likely_benign | 0.1816 | benign | -0.325 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.497126951 | None | None | N |
| T/K | 0.3337 | likely_benign | 0.3571 | ambiguous | -0.512 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.525642421 | None | None | N |
| T/L | 0.1322 | likely_benign | 0.1471 | benign | -0.325 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | N |
| T/M | 0.0975 | likely_benign | 0.112 | benign | -0.107 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/N | 0.215 | likely_benign | 0.2315 | benign | -0.461 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| T/P | 0.2457 | likely_benign | 0.2599 | benign | -0.464 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.506218758 | None | None | N |
| T/Q | 0.2825 | likely_benign | 0.2968 | benign | -0.598 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| T/R | 0.2756 | likely_benign | 0.2989 | benign | -0.325 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.486277624 | None | None | N |
| T/S | 0.1564 | likely_benign | 0.1694 | benign | -0.798 | Destabilizing | 0.999 | D | 0.522 | neutral | N | 0.503545732 | None | None | N |
| T/V | 0.1318 | likely_benign | 0.1373 | benign | -0.464 | Destabilizing | 0.999 | D | 0.598 | neutral | None | None | None | None | N |
| T/W | 0.749 | likely_pathogenic | 0.7974 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| T/Y | 0.4543 | ambiguous | 0.4945 | ambiguous | -0.718 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.